Abstract
A 30-year-old man was referred for investigation and management of hyperuricaemia. History included recurrent nephrolithiasis and chronic gout with poor response to medical management. Hypoxanthine-guanine phosphoribosyltransferase (HGPRT) enzyme activity was investigated and found to be deficient confirming the diagnosis of Lesch-Nyhan disease. Hyperuricaemia was treated with allopurinol. To prevent nephrolithiasis, the patient was instructed to avoid dehydration and aim for a minimum urine output of 2 L/day. Urinary alkalinisation with potassium citrate was started. The patient was referred for genetic counselling. This case discusses the genetics, pathophysiology, clinical manifestations, diagnosis and management of HGPRT deficiency.
MeSH terms
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Adult
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Allopurinol / therapeutic use
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Diuretics / therapeutic use
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Genetic Counseling
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Gout / etiology
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Gout Suppressants / therapeutic use
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Humans
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Hyperuricemia / diagnosis
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Hyperuricemia / drug therapy
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Hyperuricemia / enzymology
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Hyperuricemia / genetics*
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Hypoxanthine Phosphoribosyltransferase / deficiency*
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Hypoxanthine Phosphoribosyltransferase / genetics
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Lesch-Nyhan Syndrome* / blood
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Lesch-Nyhan Syndrome* / diagnosis
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Lesch-Nyhan Syndrome* / drug therapy
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Lesch-Nyhan Syndrome* / enzymology
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Male
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Nephrolithiasis / etiology
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Nephrolithiasis / prevention & control
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Potassium Citrate / therapeutic use
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Uric Acid / blood
Substances
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Diuretics
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Gout Suppressants
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Uric Acid
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Allopurinol
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Hypoxanthine Phosphoribosyltransferase
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Potassium Citrate